Incidental Mutation 'R5431:Bmp5'
ID 428055
Institutional Source Beutler Lab
Gene Symbol Bmp5
Ensembl Gene ENSMUSG00000032179
Gene Name bone morphogenetic protein 5
Synonyms
MMRRC Submission 042847-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.613) question?
Stock # R5431 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 75682646-75807592 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 75800991 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 374 (P374S)
Ref Sequence ENSEMBL: ENSMUSP00000012281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012281]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000012281
AA Change: P374S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000012281
Gene: ENSMUSG00000032179
AA Change: P374S

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:TGFb_propeptide 31 304 5.2e-94 PFAM
low complexity region 316 331 N/A INTRINSIC
TGFB 353 454 3.54e-69 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180749
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Mice with null mutations in this gene exhibit a short ear phenotype, which is characterized by reduced size of the external ear, altered size and shape of the sternum, and other skeletal and soft-tissue abnormalities. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous recessive mutants have shortened, slightly ruffled external ears due to a defective cartilage framework affecting the whole skeleton; a series of genomic deletions of the region cause embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik T C 16: 88,504,426 (GRCm39) S124G possibly damaging Het
4921539E11Rik T C 4: 103,128,045 (GRCm39) T27A probably benign Het
Aspg T A 12: 112,089,846 (GRCm39) N461K probably benign Het
B4galnt3 T A 6: 120,195,928 (GRCm39) T300S probably damaging Het
BC035044 A G 6: 128,861,970 (GRCm39) probably benign Het
C330018D20Rik A T 18: 57,090,928 (GRCm39) F78L probably benign Het
Cds2 T A 2: 132,144,090 (GRCm39) S289T probably benign Het
Cerkl C T 2: 79,171,679 (GRCm39) C393Y probably damaging Het
Cibar2 C A 8: 120,894,042 (GRCm39) probably null Het
Ciita C T 16: 10,341,656 (GRCm39) R1020C probably damaging Het
Dcaf13 C A 15: 38,986,619 (GRCm39) D130E probably benign Het
Dnal4 C T 15: 79,646,648 (GRCm39) G50R probably damaging Het
Elfn1 A G 5: 139,957,323 (GRCm39) N109S probably damaging Het
Ep400 A G 5: 110,824,420 (GRCm39) V2435A unknown Het
Fam178b T C 1: 36,671,566 (GRCm39) E185G probably damaging Het
Fam227b C A 2: 125,968,851 (GRCm39) L74F probably benign Het
Fgfr4 G A 13: 55,304,464 (GRCm39) V138I probably benign Het
Flnc A G 6: 29,456,383 (GRCm39) I2161V possibly damaging Het
Frmd5 T C 2: 121,393,390 (GRCm39) N235S probably damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Ggt6 A G 11: 72,328,564 (GRCm39) T355A possibly damaging Het
Gm14393 G A 2: 174,905,669 (GRCm39) T41I probably damaging Het
Gpr151 A C 18: 42,711,932 (GRCm39) S249A probably damaging Het
Gpr152 T A 19: 4,193,746 (GRCm39) V429D probably benign Het
Grm7 G A 6: 111,335,387 (GRCm39) M599I probably benign Het
Hdac4 T A 1: 91,900,512 (GRCm39) R54* probably null Het
Ice1 A G 13: 70,740,769 (GRCm39) L2146S probably damaging Het
Igfbpl1 C T 4: 45,815,588 (GRCm39) V183I probably benign Het
Kel G A 6: 41,675,354 (GRCm39) S299F probably benign Het
Kif14 T C 1: 136,424,433 (GRCm39) I1016T possibly damaging Het
Lhx3 T C 2: 26,091,130 (GRCm39) D395G probably damaging Het
Micu1 T C 10: 59,586,343 (GRCm39) Y140H possibly damaging Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Nbn C T 4: 15,986,593 (GRCm39) H665Y probably benign Het
Pkhd1 G T 1: 20,188,060 (GRCm39) T3416K probably benign Het
Plxnb1 T C 9: 108,929,840 (GRCm39) F232S probably damaging Het
Pus7l T C 15: 94,427,367 (GRCm39) N472D probably damaging Het
Rfx1 C T 8: 84,809,349 (GRCm39) Q225* probably null Het
Rnase2a T C 14: 51,493,020 (GRCm39) Y115C possibly damaging Het
Ryr1 T A 7: 28,809,237 (GRCm39) D386V probably benign Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Homo
Sgcz T A 8: 38,107,138 (GRCm39) T125S probably damaging Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Syt2 A G 1: 134,668,695 (GRCm39) S36G probably benign Het
Tcaf3 A G 6: 42,574,119 (GRCm39) L31P probably damaging Het
Tenm3 C A 8: 48,820,412 (GRCm39) E142* probably null Het
Tgfbr2 G T 9: 115,960,669 (GRCm39) S94R probably damaging Het
Tut4 T A 4: 108,348,609 (GRCm39) I297N probably damaging Het
Vmn2r12 A G 5: 109,239,684 (GRCm39) I293T probably damaging Het
Wrap73 G A 4: 154,229,731 (GRCm39) R34Q probably damaging Het
Zc3h14 A G 12: 98,746,324 (GRCm39) D511G possibly damaging Het
Other mutations in Bmp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01643:Bmp5 APN 9 75,746,895 (GRCm39) missense probably damaging 1.00
IGL02096:Bmp5 APN 9 75,805,833 (GRCm39) missense probably damaging 1.00
IGL02977:Bmp5 APN 9 75,801,081 (GRCm39) missense probably damaging 1.00
FR4976:Bmp5 UTSW 9 75,683,657 (GRCm39) small deletion probably benign
R1291:Bmp5 UTSW 9 75,793,955 (GRCm39) nonsense probably null
R1679:Bmp5 UTSW 9 75,746,877 (GRCm39) missense probably benign
R2049:Bmp5 UTSW 9 75,801,072 (GRCm39) missense probably damaging 1.00
R2278:Bmp5 UTSW 9 75,683,830 (GRCm39) missense possibly damaging 0.90
R5159:Bmp5 UTSW 9 75,801,035 (GRCm39) missense probably damaging 1.00
R5756:Bmp5 UTSW 9 75,683,649 (GRCm39) missense probably benign
R5884:Bmp5 UTSW 9 75,805,836 (GRCm39) missense probably damaging 1.00
R6749:Bmp5 UTSW 9 75,683,375 (GRCm39) start codon destroyed probably benign 0.00
R7346:Bmp5 UTSW 9 75,780,642 (GRCm39) missense probably damaging 1.00
R7522:Bmp5 UTSW 9 75,683,384 (GRCm39) missense probably benign
R7736:Bmp5 UTSW 9 75,801,072 (GRCm39) missense probably damaging 1.00
R8226:Bmp5 UTSW 9 75,683,606 (GRCm39) missense probably damaging 1.00
R8462:Bmp5 UTSW 9 75,746,874 (GRCm39) missense probably benign 0.03
R8955:Bmp5 UTSW 9 75,805,835 (GRCm39) missense probably damaging 1.00
R8968:Bmp5 UTSW 9 75,780,579 (GRCm39) missense probably benign 0.01
R9281:Bmp5 UTSW 9 75,683,856 (GRCm39) missense probably benign 0.35
R9766:Bmp5 UTSW 9 75,800,982 (GRCm39) missense probably damaging 0.99
RF053:Bmp5 UTSW 9 75,683,656 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- CCTCTTGGGAGAAATTAGAAAGGAC -3'
(R):5'- GTTGCTCCAGCTACAAGTTACAAAG -3'

Sequencing Primer
(F):5'- GGAGAAGCGGAACTTTTAGA -3'
(R):5'- CAAAGGAATTTAAGAACTTGAGGTTG -3'
Posted On 2016-09-01